​Our Clinical Genetics Services

Genetic Consultation

Genetic counseling provides information about genetic diseases, birth defects, inherited disorders, and how they can be passed from parent to child.

For people who have a family history of a certain disorder, genetic counseling can help to explain their risk for having a baby with the same condition.

Genetic counseling also explains how a condition may affect a child. Some genetic diseases or birth defects can be found before a baby is born. Others are not diagnosed until after birth, or until the child grows older.

Whenever the condition is found, a geneticist can provide information and support and can help locate community resources and services for the child and family.

Reproductive Genetics at Magee-Womens Hospital of UPMC

Family history of genetic disorder and/or birth defect (such as cystic fibrosis)

Advanced maternal age

First trimester screening

Multiple marker screening (Quad)

Follow-up to abnormal pregnancy screening results

Follow-up of an abnormality detected on fetal ultrasound

Informed consent for genetic testing/screening

Pediatric Genetics at Children’s Hospital of Pittsburgh of UPMC

Inborn Errors of Metabolism Clinic

General Genetics Clinic

Adult Genetics

Family or personal history of cancer (in association with the Cancer Genetics Program of the University of Pittsburgh Cancer Institute)

Family history or suspected diagnosis of a connective tissue disorder (such as Marfan syndrome or Ehlers-Danlos)

Family history or suspected diagnosis of a hereditary cardiovascular or vascular disorder (such as hereditary cardiomyopathies or hereditary aneurysm syndromes)

Malignant hyperthermia (RYR1 gene testing)

Fetal Diagnosis & Treatment Center (FDTC)

Patients who have an abnormal result from prenatal testing can be enrolled in the Fetal Diagnosis & Treatment Center (FDTC). The FDTC coordinates the efforts of various specialties, including genetics, ultrasound, high-risk pregnancy management, pediatric surgery, pediatric urology, and pediatric neurosurgery to evaluate pregnancies identified with birth defects.

Referral recommendations for skilled care and management of complicated conditions are made through this team approach. This continuum of care extends from the time of diagnosis to delivery and into the newborn period.

For help in finding a doctor or health service that suits your needs, call the UPMC Referral Service at 412-647-UPMC (8762) or 1-800-533-UPMC (8762). Select option 1.

UPMC is an equal opportunity employer. UPMC policy prohibits discrimination or harassment on the basis of race, color, religion, ancestry, national origin, age, sex, genetics, sexual orientation, marital status, familial status, disability, veteran status, or any other legally protected group status. Further, UPMC will continue to support and promote equal employment opportunity, human dignity, and racial, ethnic, and cultural diversity. This policy applies to admissions, employment, and access to and treatment in UPMC programs and activities. This commitment is made by UPMC in accordance with federal, state, and/or local laws and regulations.

Medical information made available on UPMC.com is not intended to be used as a substitute for professional medical advice, diagnosis, or treatment. You should not rely entirely on this information for your health care needs. Ask your own doctor or health care provider any specific medical questions that you have. Further, UPMC.com is not a tool to be used in the case of an emergency. If an emergency arises, you should seek appropriate emergency medical services.